Research Topics
Genomes and Genes | Frauke StankeSummaryAffiliation: Hannover Medical School Country: Germany Publications
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Detail Information
Publications
Categories of deltaF508 homozygous cystic fibrosis twin and sibling pairs with distinct phenotypic characteristicsF Mekus
Department of Pediatrics, Medizinische Hochschule Hannover, Germany
Twin Res 3:277-93. 2000..The selected pairs from these categories demonstrated non-overlapping properties for wfh%, FEVPerc and the intra-pair difference of both parameters...
Hierarchical fine mapping of the cystic fibrosis modifier locus on 19q13 identifies an association with two elements near the genes CEACAM3 and CEACAM6Frauke Stanke
Department of Pediatrics, Hannover Medical School, Hannover, Germany
Hum Genet 127:383-94. 2010....
Differential decay of parent-of-origin-specific genomic sharing in cystic fibrosis-affected sib pairs maps a paternally imprinted locus to 7q34Frauke Stanke
Department of Pediatrics, Hannover Medical School, Hannover, Germany
Eur J Hum Genet 18:553-9. 2010....- The TNFalpha receptor TNFRSF1A and genes encoding the amiloride-sensitive sodium channel ENaC as modulators in cystic fibrosisFrauke Stanke
Department of Pediatrics, OE6711, Hannover Medical School, Carl Neuberg Str 1, 30625, Hannover, Germany
Hum Genet 119:331-43. 2006.... - Genes that determine immunology and inflammation modify the basic defect of impaired ion conductance in cystic fibrosis epitheliaFrauke Stanke
Department of Pediatrics, Hannover Medical School, Germany
J Med Genet 48:24-31. 2011..The cystic fibrosis (CF) basic defect, caused by dysfunction of the apical chloride channel CFTR in the gastrointestinal and respiratory tract epithelia, has not been employed so far to support the role of CF modifier genes... - An association study on contrasting cystic fibrosis endophenotypes recognizes KRT8 but not KRT18 as a modifier of cystic fibrosis disease severity and CFTR mediated residual chloride secretionFrauke Stanke
Department of Pediatrics, Hannover Medical School, Hannover, Germany
BMC Med Genet 12:62. 2011.... - Genes in the vicinity of CFTR modulate the cystic fibrosis phenotype in highly concordant or discordant F508del homozygous sib pairsFrauke Mekus
Klinische Forschergruppe, OE 6710, Medizinische Hochschule Hannover, Carl Neuberg Strasse 1, 30625 Hannover, Germany
Hum Genet 112:1-11. 2003..We conclude that disease manifestation in CF is modulated by loci in the partially imprinted region 3' of CFTR that determine stature, food intake and energy homeostasis, such as the Silver-Russel-Syndrome candidate gene region and LEP... - Very mild disease phenotype of congenic CftrTgH(neoim)Hgu cystic fibrosis miceBalazs Toth
Klinische Forschergruppe, OE 6710, Medizinische Hochschule Hannover, Carl Neuberg Strasse 1, D 30625 Hannover, Germany
BMC Genet 9:28. 2008..Clinical and electrophysiological features of the two congenic strains were compared with those of CF/1-CftrTgH(neoim)Hgu and CF/3-CftrTgH(neoim)Hgu and wild type controls... - Functional analysis of F508del CFTR in native human colonAndrea van Barneveld
Klinische Forschergruppe, OE 6710, Medizinische Hochschule Hannover, Hannover, Germany
Biochim Biophys Acta 1802:1062-9. 2010..The finding that some F508del CFTR escapes the ER quality control in vivo substantiates the hope that the defective processing and trafficking of F508del CFTR can be corrected by pharmacological agents... 
Spontaneous rescue from cystic fibrosis in a mouse modelNikoletta Charizopoulou
Klinische Forschergruppe, OE 6710, Medizinische Hochschule Hannover, D 30625 Hannover, Germany
BMC Genet 7:18. 2006..In order to further investigate whether these genetic differences have an impact on the disease phenotype of cystic fibrosis we characterised the phenotype of the two inbred strains...- Initial interrogation, confirmation and fine mapping of modifying genes: STAT3, IL1B and IFNGR1 determine cystic fibrosis disease manifestationHeike Labenski
Department of Pediatrics, Hannover Medical School, Carl Neuberg Strasse 1, Hannover, Germany
Eur J Hum Genet 19:1281-8. 2011.... - The CLCA gene locus as a modulator of the gastrointestinal basic defect in cystic fibrosisMargit Ritzka
Department of Pediatrics and Clinical CF Research Group, Medical School Hannover, Carl Neuberg Str 1, 30625 Hannover, Germany
Hum Genet 115:483-91. 2004..The CLCA gene region was identified to encode mediators of DIDS-sensitive anion conductance in the human gastrointestinal tract that modulate the CF basic defect... - CFTR protein analysis of splice site mutation 2789+5 G-AAndrea van Barneveld
Department of Pediatric Pneumology and Neonatology, OE 6710, Medizinische Hochschule Hannover, D30625 Hannover, Germany
J Cyst Fibros 7:165-7. 2008.... - Instability of the insertional mutation in CftrTgH(neoim)Hgu cystic fibrosis mouse modelNikoletta Charizopoulou
Klinische Forschergruppe, OE 6710, Medizinische Hochschule Hannover, D 30625 Hannover, Germany
BMC Genet 5:6. 2004.... - Cystic fibrosis transmembrane conductance regulator (CFTR)-mediated residual chloride secretion does not protect against early chronic Pseudomonas aeruginosa infection in F508del homozygous cystic fibrosis patientsNico Derichs
Medizinische Hochschule Hannover, Department of Pediatrics, Carl Neuberg Str 1, D 30623 Hannover, Germany
Pediatr Res 55:69-75. 2004..These results demonstrate the presence of some active F508del-CFTR in the apical cell membrane and imply that factors other than the CFTR-mediated residual Cl- secretion determine the age of onset of PA colonization... - Head-out spirometry accurately monitors the course of Pseudomonas aeruginosa lung infection in miceFlorian Wölbeling
Pediatric Pulmonology and Neonatology, Hannover Medical School, Hannover, Germany woelbeling florian mh hannover de
Respiration 80:340-6. 2010..Longitudinal parameters such as temperature appear to have a relatively low accuracy. Spirometry might be an accurate method to assess the course of a bacterial lung infection without the necessity to sacrifice the animals... - Genetic variants of chemokine receptor CCR7 in patients with systemic lupus erythematosus, Sjogren's syndrome and systemic sclerosisDaniel Kahlmann
Institute of Immunology, Hannover Medical School, Hannover, Germany
BMC Genet 8:33. 2007..However, it is unknown whether mutations of CCR7 are linked to autoimmunity in humans... - Ex vivo biochemical analysis of CFTR in human rectal biopsiesAndrea van Barneveld
Klinische Forschergruppe, OE 6711, Medizinische Hochschule Hannover, Carl Neuberg Str 1, D 30623 Hannover, Germany
Biochim Biophys Acta 1762:393-7. 2006..Interestingly, maturation of CFTR increases substantially in tissue incubated at 26 degrees C. Our data provide a solid basis for future studies on the characterisation of CFTR in pathological cases... - Genome diversity of Pseudomonas aeruginosa PAO1 laboratory strainsJens Klockgether
Klinische Forschergruppe, Medizinische Hochschule Hannover, Hannover, Germany
J Bacteriol 192:1113-21. 2010..High-throughput genome resequencing will resolve more cases and could become a proper quality control for strain collections...